000086210 001__ 86210
000086210 005__ 20201122125253.0
000086210 0247_ $$2doi$$a10.1038/s41598-019-48385-w
000086210 0248_ $$2sideral$$a114354
000086210 037__ $$aART-2019-114354
000086210 041__ $$aeng
000086210 100__ $$aXiol, C.
000086210 245__ $$aX chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients
000086210 260__ $$c2019
000086210 5060_ $$aAccess copy available to the general public$$fUnrestricted
000086210 5203_ $$aRett syndrome (RTT) is a severe neurological disorder usually caused by mutations in the MECP2 gene. Since the MECP2 gene is located on the X chromosome, X chromosome inactivation (XCI) could play a role in the wide range of phenotypic variation of RTT patients; however, classical methylation-based protocols to evaluate XCI could not determine whether the preferentially inactivated X chromosome carried the mutant or the wild-type allele. Therefore, we developed an allele-specific methylation-based assay to evaluate methylation at the loci of several recurrent MECP2 mutations. We analyzed the XCI patterns in the blood of 174 RTT patients, but we did not find a clear correlation between XCI and the clinical presentation. We also compared XCI in blood and brain cortex samples of two patients and found differences between XCI patterns in these tissues. However, RTT mainly being a neurological disease complicates the establishment of a correlation between the XCI in blood and the clinical presentation of the patients. Furthermore, we analyzed MECP2 transcript levels and found differences from the expected levels according to XCI. Many factors other than XCI could affect the RTT phenotype, which in combination could influence the clinical presentation of RTT patients to a greater extent than slight variations in the XCI pattern.
000086210 536__ $$9info:eu-repo/grantAgreement/ES/ISCIII-FEDER/PI15-01159$$9info:eu-repo/grantAgreement/ES/MSCBS/FECYT-PRECIPITA
000086210 540__ $$9info:eu-repo/semantics/openAccess$$aby$$uhttp://creativecommons.org/licenses/by/3.0/es/
000086210 590__ $$a3.998$$b2019
000086210 591__ $$aMULTIDISCIPLINARY SCIENCES$$b17 / 71 = 0.239$$c2019$$dQ1$$eT1
000086210 592__ $$a1.341$$b2019
000086210 593__ $$aMultidisciplinary$$c2019$$dQ1
000086210 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion
000086210 700__ $$aVidal, S.
000086210 700__ $$aPascual-Alonso, A.
000086210 700__ $$aBlasco, L.
000086210 700__ $$aBrandi, N.
000086210 700__ $$aPacheco, P.
000086210 700__ $$aGerotina, E.
000086210 700__ $$aO''Callaghan, M.
000086210 700__ $$aPineda, M.
000086210 700__ $$aArmstrong, J.
000086210 700__ $$aAguirre, F.J.
000086210 700__ $$aAleu, M.
000086210 700__ $$aAlonso, X.
000086210 700__ $$aAlsius, M.
000086210 700__ $$aAmoros, M.
000086210 700__ $$aAntinolo, G.
000086210 700__ $$aAquino, L.
000086210 700__ $$aArellano, C.
000086210 700__ $$aArriola, G.
000086210 700__ $$aArteaga, R.
000086210 700__ $$aBaena, N.
000086210 700__ $$aBarcos, M.
000086210 700__ $$aBelzunces, N.
000086210 700__ $$aBoronat, S.
000086210 700__ $$aCamacho, T.
000086210 700__ $$aCampistol, J.
000086210 700__ $$adel Campo, M.
000086210 700__ $$aCampo, A.
000086210 700__ $$aCancho, R.
000086210 700__ $$aCandau, R.
000086210 700__ $$aCanos, I.
000086210 700__ $$aCarrascosa, M.D.
000086210 700__ $$aCarratala-Marco, F.
000086210 700__ $$aCasano, J.
000086210 700__ $$aCastro, P.
000086210 700__ $$aCobo, A.
000086210 700__ $$aColomer, J.
000086210 700__ $$aConejo, D.
000086210 700__ $$aCorrales, M.J.
000086210 700__ $$aCortes, R.
000086210 700__ $$aCruz, G.
000086210 700__ $$aCsanyi, G.
000086210 700__ $$aDe Santos, M.T.
000086210 700__ $$aDe Toledo, M.
000086210 700__ $$aDel Campo, M.
000086210 700__ $$aDel Toro, M.
000086210 700__ $$aDomingo, R.
000086210 700__ $$aDuat, A.
000086210 700__ $$aDuque, R.
000086210 700__ $$aEsparza, A.M.
000086210 700__ $$aFernandez, R.
000086210 700__ $$aFons, M.C.
000086210 700__ $$aFontalba, A.
000086210 700__ $$aGalan, E.
000086210 700__ $$aGallano, P.
000086210 700__ $$aGamundi, M.J.
000086210 700__ $$aGarcia, P.L.
000086210 700__ $$aGarcia, M.D.
000086210 700__ $$aGarcia-Barcina, M.
000086210 700__ $$aGarcia-Catalan, M.J.
000086210 700__ $$aGarcia-Cazorla, A.
000086210 700__ $$aGarcia-Minaur, S.
000086210 700__ $$aGarcia-Penas, J.J.
000086210 700__ $$aGarcia-Silva, M.T.
000086210 700__ $$aGassio, R.
000086210 700__ $$aGean, E.
000086210 700__ $$aGil, B.
000086210 700__ $$aGokben, S.
000086210 700__ $$aGonzalez, L.
000086210 700__ $$aGonzalez, V.
000086210 700__ $$aGonzalez, J.
000086210 700__ $$aGonzalez, G.
000086210 700__ $$aGuillen, E.
000086210 700__ $$aGuitart, M.
000086210 700__ $$aGuitet, M.
000086210 700__ $$aGutierrez, J.M.
000086210 700__ $$aGutierrez, E.
000086210 700__ $$aHerranz, J.L.
000086210 700__ $$aIglesias, G.
000086210 700__ $$aKaracic, I.
000086210 700__ $$aLahoz, C.H.
000086210 700__ $$aLao, J.I.
000086210 700__ $$aLapunzina, P.
000086210 700__ $$aLautre-Ecenarro, M.J.
000086210 700__ $$aLluch, M.D.
000086210 700__ $$aLopez, L.
000086210 700__ $$aLopez-Ariztegui, A.
000086210 700__ $$aMacaya, A.
000086210 700__ $$aMarin, R.
000086210 700__ $$aMarquez, C.M.L.
000086210 700__ $$aMartin, E.
000086210 700__ $$aMartinez, B.
000086210 700__ $$aMartinez-Salcedo, E.
000086210 700__ $$aMas, M.J.
000086210 700__ $$aMateo, G.
000086210 700__ $$aMendez, P.
000086210 700__ $$aJimenez, A.M.
000086210 700__ $$aMoreno, S.
000086210 700__ $$aMulas, F.
000086210 700__ $$aNarbona, J.
000086210 700__ $$aNascimento, A.
000086210 700__ $$aNieto, M.
000086210 700__ $$aNunes, T.F.
000086210 700__ $$aNunez, N.
000086210 700__ $$aObon, M.
000086210 700__ $$aOnsurbe, I.
000086210 700__ $$aOrtez, C.I.
000086210 700__ $$aOrts, E.
000086210 700__ $$aMartinez, F.
000086210 700__ $$aParrilla, R.
000086210 700__ $$aPascual, S.I.
000086210 700__ $$aPatino, A.
000086210 700__ $$aPerez-Poyato, M.
000086210 700__ $$aPerez-Duenas, B.
000086210 700__ $$aPoo, P.
000086210 700__ $$0(orcid)0000-0002-5732-2209$$aPuche, E.$$uUniversidad de Zaragoza
000086210 700__ $$aRamos, F.
000086210 700__ $$aRaspall, M.
000086210 700__ $$aRoche, A.
000086210 700__ $$aRoldan, S.
000086210 700__ $$aRosell, J.
000086210 700__ $$aRuiz, C.
000086210 700__ $$aRuiz-Falco, M.L.
000086210 700__ $$aRussi, M.E.
000086210 700__ $$aSamarra, J.
000086210 700__ $$aSan Antonio, V.
000086210 700__ $$aSanchez, I.
000086210 700__ $$aSanmartin, X.
000086210 700__ $$aSans, A.
000086210 700__ $$aSantacana, A.
000086210 700__ $$aScholl-Burgi, S.
000086210 700__ $$aSerrano, N.
000086210 700__ $$aSerrano, M.
000086210 700__ $$aMartin-Tamayo, P.
000086210 700__ $$aTendero, A.
000086210 700__ $$aTorrents, J.
000086210 700__ $$aTortosa, D.
000086210 700__ $$aTrivino, E.
000086210 700__ $$aTroncoso, L.
000086210 700__ $$aTuron, E.
000086210 700__ $$aVazquez, P.
000086210 700__ $$aVazquez, C.
000086210 700__ $$aVelazquez, R.
000086210 700__ $$aVentura, C.
000086210 700__ $$aVerdu, A.
000086210 700__ $$aVernet, A.
000086210 700__ $$aVila, M.T.
000086210 700__ $$aVillar, C.
000086210 7102_ $$11010$$2670$$aUniversidad de Zaragoza$$bDpto. Pediatría Radiol.Med.Fís$$cÁrea Pediatría
000086210 773__ $$g9 (2019), 11983 [9 pp]$$pSci. rep.$$tScientific Reports$$x2045-2322
000086210 8564_ $$s1169379$$uhttps://zaguan.unizar.es/record/86210/files/texto_completo.pdf$$yVersión publicada
000086210 8564_ $$s106526$$uhttps://zaguan.unizar.es/record/86210/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada
000086210 909CO $$ooai:zaguan.unizar.es:86210$$particulos$$pdriver
000086210 951__ $$a2020-11-22-12:44:35
000086210 980__ $$aARTICLE